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Gene: Smchd1 MGI:1921605

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Gene Summary

Name:
SMC hinge domain containing 1
Synonyms:
4931400A14Rik,  MommeD1

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal sternum morphology Smchd1em1(IMPC)Tcp HET Early adult 0.00
impaired pupillary reflex Smchd1em1(IMPC)Tcp HOM Early adult 8.75×10-05
preweaning lethality, incomplete penetrance Smchd1em1(IMPC)Tcp HOM   Early adult 0.00
decreased prepulse inhibition Smchd1em1(IMPC)Tcp HET Early adult 6.28×10-05
preweaning lethality, complete penetrance Smchd1em1(IMPC)Tcp HOM Early adult 0.00
abnormal stomach morphology Smchd1em1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

Images Ophthalmoscopy

114 Images

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Eye Morphology

Images Slit Lamp

108 Images

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Gross Morphology Embryo E14.5-E15.5

Images

5 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Gross Pathology and Tissue Collection

Images

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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Gross Morphology Embryo E12.5

Images

2 Images

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Human diseases caused by Smchd1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Smchd1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Micropenis OMIM:603457
Facioscapulohumeral Dystrophy
Abnormal retinal vascular morphology ORPHA:269
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, Hypoplasia of penis, Hypogonadism, External genital hypoplasia ORPHA:2250
Facioscapulohumeral Muscular Dystrophy 2, Digenic
OMIM:158901

The table below shows human diseases predicted to be associated to Smchd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gastric Cancer
Stomach cancer OMIM:613659
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Cherubism
Macular scar, Optic neuropathy, Marcus Gunn pupil, Narrow palate OMIM:118400
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Congenital pyloric atresia OMIM:612138
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... ORPHA:157798
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma OMIM:613490
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Con... ORPHA:220460
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology ORPHA:281090
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Familial Melanoma
Retinopathy, Neoplasm of the stomach ORPHA:618
Msh3-Related Attenuated Familial Adenomatous Polyposis
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop... ORPHA:480536
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Bronchogenic Cyst
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology ORPHA:2357
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... OMIM:300048
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia ORPHA:2617
Metachromatic Leukodystrophy
Dystonia, Abnormal stomach morphology, Tremor, Neoplasm of the gallbladder, Abnormal duodenum mor... ORPHA:512
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma ORPHA:64743
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... ORPHA:2538
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Muir-Torre Syndrome
Neoplasm of the liver, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm ORPHA:587
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia ORPHA:779
Craniorachischisis
Bifid sternum ORPHA:63260
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Esophageal varix, Bilater... OMIM:301068
Knobloch Syndrome 2
Retinal detachment, Pyloric stenosis, Vitreoretinopathy, Vitreous floaters OMIM:618458
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... OMIM:303600
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Viss Syndrome
Chronic gastritis, Retinal detachment, Duodenitis, Intestinal malrotation, Cleft soft palate, Sub... OMIM:619472
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Williams Syndrome
Colonic diverticula, Peptic ulcer, Malabsorption, Tremor, Abnormal gastric mucosa morphology, Rec... ORPHA:904
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Micropenis OMIM:603457
Facioscapulohumeral Dystrophy
Abnormal retinal vascular morphology ORPHA:269
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, Hypoplasia of penis, Hypogonadism, External genital hypoplasia ORPHA:2250
Facioscapulohumeral Muscular Dystrophy 2, Digenic
OMIM:158901

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Smchd1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Smchd1.

No publications found that use IMPC mice or data for Smchd1.

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MGI Allele Allele Type Produced
Smchd1em1(IMPC)Tcp Exon Deletion Mice

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